Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R160 Primary pigmented nodular adrenocortical disease' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R160 Primary pigmented nodular adrenocortical disease'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.
Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.


The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/566/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (31/07/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

2 reviewers

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

4 Entities

4 reviewed, 4 green

List Entity Reviews Mode of inheritance Details
4 Entitiess
Green Green List (high evidence)
ARMC5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • ACTH-independent macronodular adrenal hyperplasia 2, 615954
Tags
Green Green List (high evidence)
PDE11A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 2, 610475
Tags
Green Green List (high evidence)
PDE8B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 3, 614190
Tags
Green Green List (high evidence)
PRKAR1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 1, 610489
Tags

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